Canonical Allele Identifier: CA2626130534

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91313215-CTTCTCAACGGCGGACAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313218_91313234del , CM000676.2:g.91313218_91313234del	GRCh38
NC_000014.8:g.91779562_91779578del , CM000676.1:g.91779562_91779578del	GRCh37
NC_000014.7:g.90849315_90849331del	NCBI36
NG_033118.1:g.109613_109629del
NG_033118.2:g.109613_109629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2584_2600del MANE Select	ENSP00000374507.6:p.Leu862GlyfsTer?
ENST00000389857.10:c.2584_2600del	ENSP00000374507.6:p.Leu862GlyfsTer?
NM_001080414.3:c.2584_2600del	NP_001073883.2:p.Leu862GlyfsTer?
XM_005267691.3:c.2584_2600del	XP_005267748.1:p.Leu862GlyfsTer?
XM_011536796.1:c.2476_2492del	XP_011535098.1:p.Leu826GlyfsTer?
XR_429316.2:n.2712_2728del
XR_943459.1:n.2712_2728del
XM_005267691.5:c.2584_2600del	XP_005267748.1:p.Leu862GlyfsTer?
XM_011536796.2:c.2476_2492del	XP_011535098.1:p.Leu826GlyfsTer?
XM_017021335.2:c.2584_2600del	XP_016876824.1:p.Leu862GlyfsTer?
XM_017021337.2:c.2584_2600del	XP_016876826.1:p.Leu862GlyfsTer?
XR_429316.4:n.2710_2726del
NM_001080414.4:c.2584_2600del MANE Select	NP_001073883.2:p.Leu862GlyfsTer?